Denys Drash Syndrome with Ambiguous Genitalia- A Case Report from Southern Philippines

Genelynne J Beley
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Genelynne J Beley: Southern Philippines Medical Center, Department of Pediatrics, Davao City, Philippines

Biomedical Journal of Scientific & Technical Research, 2023, vol. 49, issue 2, 40401-40409

Abstract: Worldwide, more than 200 cases of Denys-Drash syndrome have been published up to date. This patient from Southern Philippines presented with a left abdominal mass associated with signs of nephropathy such as periorbital, facial and bipedal edema. He also presented with ambiguous genitalia and undescended testis, left. The clinical triad of Nephrotic Syndrome, male pseudohermaphrodritism and Wilms tumor presenting as progressively enlarging abdominal mass were appreciated. Chromosomal analyses showed a 46, XY chromosomes and further diagnostic work up revealed a WT1c.1358G>C (p. Cys453Ser) heterozygous (Variant of Unknown Significance or VUS).

Keywords: Journals on Medical Drug and Therapeutics; Journals on Emergency Medicine; Physical Medicine and Rehabilitation; Journals on Infectious Diseases Addiction Science and Clinical Pathology; Open Access Clinical and Medical Journal; Journals on Biomedical Science; List of Open Access Medical Journal; Journals on Biomedical Engineering; Open Access Medical Journal; Biomedical Science Articles; Journal of Scientific and Technical Research (search for similar items in EconPapers)
Date: 2023
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Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:49:y:2023:i:2:p:40401-40409

DOI: 10.26717/BJSTR.2023.49.007767

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